PTDSS1

Chr 8q22.1

phosphatidylserine synthase 1

Aliases:: KIAA0024, PSSA, PSS1
MANE:: ENST00000517309.6

OMIM: 612792 ↗NCBI: 9791 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTDSS1 · P48651

v62025-08-01

Predicted Aligned Error matrix for PTDSS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.0/ 100

Confident

473 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)30%
Low(50–70)6%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Lenz-Majewski hyperostotic dwarfism
0.76
neurodegenerative disease
0.51
Alzheimer disease
0.44
Parkinson disease
0.44
lysosomal storage disease
0.44
multiple sclerosis
0.44
smoking initiation
0.31
mouth disorder
0.25
hereditary disease
0.19
microcephaly
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylserine synthase 1

Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535)